Mutagenetix > Incidental Mutation

Incidental Mutation 'R5997:Erbb3'

480635

Institutional Source

Beutler Lab

Gene Symbol

Erbb3

Ensembl Gene

ENSMUSG00000018166

Gene Name

erb-b2 receptor tyrosine kinase 3

Synonyms

Erbb3r, Erbb-3, HER3

MMRRC Submission

044176-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5997 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128403392-128425504 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128419054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 269 (T269M)

Ref Sequence

ENSEMBL: ENSMUSP00000080716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082059]

AlphaFold

Q61526

Predicted Effect

probably damaging
Transcript: ENSMUST00000082059
AA Change: T269M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080716
Gene: ENSMUSG00000018166
AA Change: T269M

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Recep_L_domain	55	167	2.4e-31	PFAM
FU	180	220	5.83e0	SMART
FU	223	265	7.63e-10	SMART
Pfam:Recep_L_domain	353	474	7.5e-33	PFAM
FU	490	541	7.82e-7	SMART
FU	546	595	1.34e-5	SMART
FU	607	643	9.24e0	SMART
TyrKc	707	963	7.42e-91	SMART
low complexity region	997	1018	N/A	INTRINSIC
low complexity region	1113	1124	N/A	INTRINSIC
low complexity region	1135	1148	N/A	INTRINSIC
low complexity region	1172	1185	N/A	INTRINSIC
low complexity region	1186	1196	N/A	INTRINSIC
low complexity region	1201	1213	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184111

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.5%

Validation Efficiency

100% (78/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit a lack of Schwann-cell precursors leading to loss of sensory and motor neurons, hypoplasia of the primary sympathetic ganglion chain, cardiac defects, impaired brain development, and embryonic lethality. [provided by MGI curators]

Allele List at MGI

All alleles(27) : Targeted(11) Gene trapped(14) Chemically induced(2)

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	T	5: 124,227,878 (GRCm39)	V121E	possibly damaging	Het
Acsbg3	A	T	17: 57,183,373 (GRCm39)	D38V	probably benign	Het
Adamts20	T	A	15: 94,277,628 (GRCm39)	Y278F	probably damaging	Het
Adcy7	A	T	8: 89,053,020 (GRCm39)	D972V	probably benign	Het
Adgrf3	C	A	5: 30,403,360 (GRCm39)		probably null	Het
Ahdc1	G	T	4: 132,791,206 (GRCm39)	G816C	probably benign	Het
Aifm3	A	G	16: 17,319,994 (GRCm39)	K283E	probably benign	Het
Akap6	T	C	12: 52,984,016 (GRCm39)		probably null	Het
Ank1	T	C	8: 23,589,678 (GRCm39)	L593P	probably damaging	Het
Apol11b	T	A	15: 77,519,697 (GRCm39)	T128S	probably benign	Het
C1qtnf7	C	A	5: 43,773,427 (GRCm39)	T235K	probably damaging	Het
Camk2a	A	T	18: 61,111,029 (GRCm39)	I73F	probably damaging	Het
Ccdc121rt3	C	T	5: 112,502,874 (GRCm39)	V277M	possibly damaging	Het
Cd109	G	T	9: 78,612,344 (GRCm39)	V1244F	possibly damaging	Het
Cep164	A	G	9: 45,680,761 (GRCm39)	L1240S	possibly damaging	Het
Cnga1	T	A	5: 72,761,918 (GRCm39)	D532V	probably damaging	Het
Cyp4a14	A	T	4: 115,353,297 (GRCm39)	L5*	probably null	Het
Cyp4a30b	A	T	4: 115,316,588 (GRCm39)	K405*	probably null	Het
Dchs1	T	C	7: 105,403,302 (GRCm39)	D3080G	probably benign	Het
Ddx1	T	C	12: 13,287,800 (GRCm39)	D168G	probably damaging	Het
Dhx57	T	G	17: 80,553,235 (GRCm39)	K1231Q	probably damaging	Het
Dnah14	A	G	1: 181,597,670 (GRCm39)	N3640D	probably benign	Het
Dock4	T	A	12: 40,805,833 (GRCm39)	L935Q	probably damaging	Het
Dus2	A	T	8: 106,772,698 (GRCm39)	R269S	probably benign	Het
E230025N22Rik	G	A	18: 36,822,161 (GRCm39)	R201C	possibly damaging	Het
Fbxo43	T	C	15: 36,162,239 (GRCm39)	R323G	probably damaging	Het
Fktn	A	G	4: 53,735,061 (GRCm39)	H233R	probably benign	Het
Ftsj3	A	T	11: 106,143,077 (GRCm39)	D412E	probably damaging	Het
Fzd7	A	T	1: 59,523,703 (GRCm39)	M529L	probably benign	Het
Fzr1	T	A	10: 81,206,660 (GRCm39)		probably null	Het
Ganc	T	G	2: 120,261,086 (GRCm39)	V257G	possibly damaging	Het
Garin1a	T	A	6: 29,290,423 (GRCm39)	L267*	probably null	Het
Gm4131	T	C	14: 62,702,207 (GRCm39)	K254E	probably damaging	Het
Gm7347	G	T	5: 26,262,247 (GRCm39)	Y91*	probably null	Het
Gm9857	G	A	3: 108,847,481 (GRCm39)		probably benign	Het
Grpel1	T	C	5: 36,622,592 (GRCm39)	S19P	probably benign	Het
Gtf3c4	T	C	2: 28,723,723 (GRCm39)	K670E	possibly damaging	Het
H2bc7	G	A	13: 23,758,277 (GRCm39)		probably benign	Het
Hmcn1	G	T	1: 150,579,924 (GRCm39)	Q1938K	possibly damaging	Het
Hnrnpk	T	C	13: 58,546,971 (GRCm39)	D71G	probably damaging	Het
Hspa4l	G	A	3: 40,722,411 (GRCm39)	R311H	probably damaging	Het
Igkv3-5	T	A	6: 70,640,688 (GRCm39)	F56L	probably benign	Het
Igkv6-20	T	A	6: 70,312,898 (GRCm39)	T92S	possibly damaging	Het
Krt8	C	T	15: 101,909,029 (GRCm39)	V200I	possibly damaging	Het
Lamb2	A	T	9: 108,357,587 (GRCm39)	T66S	possibly damaging	Het
Lamp3	A	G	16: 19,519,778 (GRCm39)	L135S	probably benign	Het
Lrguk	A	G	6: 34,106,078 (GRCm39)	Y701C	probably damaging	Het
Mcc	G	T	18: 44,582,388 (GRCm39)	L588M	probably damaging	Het
Mcidas	T	A	13: 113,135,120 (GRCm39)	L234Q	probably damaging	Het
Mtmr14	T	A	6: 113,257,575 (GRCm39)	L208Q	probably damaging	Het
Myof	A	G	19: 37,893,747 (GRCm39)	F1139L	possibly damaging	Het
Nlrp14	C	A	7: 106,781,703 (GRCm39)	T300K	probably benign	Het
Or2d36	A	T	7: 106,746,535 (GRCm39)	E4V	possibly damaging	Het
Or2m13	T	A	16: 19,226,694 (GRCm39)	H24L	probably benign	Het
Or5b118	A	G	19: 13,448,870 (GRCm39)	I179V	probably benign	Het
Or8b41	A	T	9: 38,055,097 (GRCm39)	Y217F	probably damaging	Het
Orc2	A	G	1: 58,511,547 (GRCm39)	I354T	probably damaging	Het
Pard3b	G	T	1: 62,115,568 (GRCm39)	S140I	probably damaging	Het
Pcgf5	A	G	19: 36,412,003 (GRCm39)	D49G	probably benign	Het
Pcsk6	T	C	7: 65,609,041 (GRCm39)	F388S	probably damaging	Het
Prokr2	A	C	2: 132,223,362 (GRCm39)	I60S	probably damaging	Het
Rab33b	A	G	3: 51,391,900 (GRCm39)	T50A	possibly damaging	Het
Rbms3	T	C	9: 116,548,457 (GRCm39)	D61G	probably damaging	Het
Rhcg	T	A	7: 79,250,262 (GRCm39)	K274*	probably null	Het
Rnf112	C	T	11: 61,341,848 (GRCm39)	V319M	possibly damaging	Het
Rnf44	A	T	13: 54,830,613 (GRCm39)	S265T	possibly damaging	Het
Sf3a3	A	G	4: 124,615,851 (GRCm39)	D168G	probably damaging	Het
Sik2	A	G	9: 50,806,642 (GRCm39)		probably null	Het
Slco1a5	T	A	6: 142,198,839 (GRCm39)	L275F	probably benign	Het
Smtnl1	T	C	2: 84,645,722 (GRCm39)	H383R	probably damaging	Het
Spns3	T	G	11: 72,429,904 (GRCm39)	T175P	probably damaging	Het
Togaram1	A	G	12: 65,042,312 (GRCm39)	T1174A	probably benign	Het
Tradd	C	T	8: 105,987,277 (GRCm39)	E10K	possibly damaging	Het
Ttc7b	A	T	12: 100,339,819 (GRCm39)	Y579N	probably damaging	Het
Uncx	G	A	5: 139,533,344 (GRCm39)	G470R	probably damaging	Het
Vav3	T	A	3: 109,408,777 (GRCm39)	M177K	probably damaging	Het
Wfs1	A	T	5: 37,125,094 (GRCm39)	I599N	probably damaging	Het
Zfp454	G	A	11: 50,764,449 (GRCm39)	H217Y	probably damaging	Het

Other mutations in Erbb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Erbb3	APN	10	128,406,852 (GRCm39)	missense	probably damaging	0.99
IGL01482:Erbb3	APN	10	128,408,798 (GRCm39)	missense	possibly damaging	0.87
IGL01866:Erbb3	APN	10	128,405,237 (GRCm39)	makesense	probably null
IGL01981:Erbb3	APN	10	128,407,519 (GRCm39)	missense	probably benign	0.28
IGL02190:Erbb3	APN	10	128,406,879 (GRCm39)	splice site	probably null
IGL02329:Erbb3	APN	10	128,409,088 (GRCm39)	missense	probably damaging	1.00
IGL02400:Erbb3	APN	10	128,415,393 (GRCm39)	missense	probably benign	0.02
IGL02478:Erbb3	APN	10	128,407,227 (GRCm39)	nonsense	probably null
IGL02502:Erbb3	APN	10	128,406,153 (GRCm39)	missense	probably benign
IGL02539:Erbb3	APN	10	128,420,174 (GRCm39)	splice site	probably null
IGL03187:Erbb3	APN	10	128,408,463 (GRCm39)	splice site	probably benign
I1329:Erbb3	UTSW	10	128,419,323 (GRCm39)	missense	possibly damaging	0.73
PIT4812001:Erbb3	UTSW	10	128,410,248 (GRCm39)	missense	possibly damaging	0.67
R0006:Erbb3	UTSW	10	128,409,279 (GRCm39)	critical splice donor site	probably null
R0006:Erbb3	UTSW	10	128,409,279 (GRCm39)	critical splice donor site	probably null
R0078:Erbb3	UTSW	10	128,419,310 (GRCm39)	missense	probably damaging	1.00
R0366:Erbb3	UTSW	10	128,408,439 (GRCm39)	missense	possibly damaging	0.77
R0601:Erbb3	UTSW	10	128,412,881 (GRCm39)	missense	probably benign	0.01
R0621:Erbb3	UTSW	10	128,422,094 (GRCm39)	missense	probably benign	0.00
R1222:Erbb3	UTSW	10	128,407,534 (GRCm39)	missense	probably damaging	1.00
R1675:Erbb3	UTSW	10	128,407,073 (GRCm39)	missense	probably damaging	0.97
R1676:Erbb3	UTSW	10	128,419,117 (GRCm39)	missense	probably benign	0.08
R1692:Erbb3	UTSW	10	128,407,594 (GRCm39)	missense	probably benign	0.19
R1875:Erbb3	UTSW	10	128,410,335 (GRCm39)	missense	possibly damaging	0.71
R2002:Erbb3	UTSW	10	128,422,094 (GRCm39)	missense	probably benign	0.00
R2219:Erbb3	UTSW	10	128,405,740 (GRCm39)	missense	probably damaging	0.99
R2328:Erbb3	UTSW	10	128,419,562 (GRCm39)	missense	probably damaging	1.00
R3840:Erbb3	UTSW	10	128,406,193 (GRCm39)	missense	probably benign
R4393:Erbb3	UTSW	10	128,408,639 (GRCm39)	missense	probably damaging	1.00
R4567:Erbb3	UTSW	10	128,414,944 (GRCm39)	missense	probably damaging	1.00
R4616:Erbb3	UTSW	10	128,408,639 (GRCm39)	nonsense	probably null
R4766:Erbb3	UTSW	10	128,422,107 (GRCm39)	missense	possibly damaging	0.76
R4881:Erbb3	UTSW	10	128,412,816 (GRCm39)	missense	probably benign	0.00
R4974:Erbb3	UTSW	10	128,408,317 (GRCm39)	missense	probably benign
R5266:Erbb3	UTSW	10	128,405,505 (GRCm39)	missense	probably damaging	1.00
R5463:Erbb3	UTSW	10	128,405,948 (GRCm39)	nonsense	probably null
R5481:Erbb3	UTSW	10	128,408,349 (GRCm39)	missense	probably damaging	0.98
R6370:Erbb3	UTSW	10	128,405,943 (GRCm39)	missense	possibly damaging	0.90
R7639:Erbb3	UTSW	10	128,405,716 (GRCm39)	missense	probably damaging	0.99
R7713:Erbb3	UTSW	10	128,410,318 (GRCm39)	missense	probably benign
R7847:Erbb3	UTSW	10	128,407,058 (GRCm39)	missense	probably damaging	1.00
R8529:Erbb3	UTSW	10	128,419,069 (GRCm39)	missense	probably damaging	0.99
R8843:Erbb3	UTSW	10	128,414,325 (GRCm39)	missense	possibly damaging	0.82
R8988:Erbb3	UTSW	10	128,406,030 (GRCm39)	missense	probably damaging	1.00
R9336:Erbb3	UTSW	10	128,420,929 (GRCm39)	missense	probably benign	0.15
R9530:Erbb3	UTSW	10	128,410,291 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCACATAATCACATCTAGGTTCCCC -3'
(R):5'- CCAGGACACAGATTGCTTCG -3'

Sequencing Primer
(F):5'- ATCTAGGTTCCCCCGATTAACAC -3'
(R):5'- CGTATGTAATGGTGCCATCAGCC -3'

Posted On

2017-06-26